E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Mucopolysaccharidosis Type VI (MPS VI; Maroteaux-Lamy Syndrome) |
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MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 6.0 |
E.1.2 | Level | PT |
E.1.2 | Classification code | 10056892 |
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E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
The primary objective of the study is to evaluate the efficacy of two dose levels of Naglazyme in preventing the progression of skeletal dysplasia in infants under the age of one year who have MPS VI by monitoring physical appearance, x-ray of the skeletal system and growth. |
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E.2.2 | Secondary objectives of the trial |
The secondary objective of the study is to evaluate the efficacy of the two dose levels of Naglazyme in preventing several measures of disease progression in infants under the age of one year who have MPS VI by monitoring urinary GAGs, gross and fine motor function, cardiac function, vision, hearing, and use of health resources.
The safety objective of the study is to evaluate the safety of two dose levels of Naglazyme in infants under the age of one year who have MPS VI. |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
· In the case of subjects under the age of 18, provide written assent (if required) and written informed consent by a parent or legal guardian after the nature of the study has been explained and prior to any research-related procedures; · Willing and able to comply with all study procedures; · Equal to or greater than 36 weeks estimated gestational age by physical exam at birth; · Has a diagnosis of MPS VI based on a documented prenatal diagnosis or fibroblast or leukocyte N-acetylgalactosamine 4-sulfatase (ASB) enzyme activity level of less than 10% of the lower limit of the normal range of the measuring laboratory; · Is less than one year of age; · Has no evidence of skeletal dysplasia based on physical exam. |
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E.4 | Principal exclusion criteria |
· Perceived to be unreliable or unavailable for study participation or, if under the age of 18, have parents or legal guardians who are perceived to be unreliable or unavailable; · Use of any investigational drug within 30 days prior to screening, or requirement for any investigational agent prior to completion of all scheduled study assessments; · Concurrent disease or condition that would interfere with study participation or safety (i.e., has previously undergone hematopoietic stem cell transplantation such as bone marrow or cord blood transplantation, or major organ transplantation); · Any condition that, in the view of the PI, renders the subject at high risk from treatment compliance and/or completing the study; · Has known hypersensitivity to Naglazyme; · Has previously received Naglazyme. |
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E.5 End points |
E.5.1 | Primary end point(s) |
The primary efficacy endpoint will be assessed by changes in dysmorphic features as assessed by photographs, changes in skeletal dysplasia as assessed by skeletal survey, and growth as measured by height, weight and head circumference. Other potential benefits of treatment will be periodically assessed by evaluation of gross and fine motor skills as part of the Denver II Development Test, cardiac evaluation by echocardiography, complete eye and visual exam, hearing test by audiometry, Health Resource Utilization Questionnaire, and urinary GAGs. |
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | Yes |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | Information not present in EudraCT |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | No |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | Yes |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | Yes |
E.8.1.2 | Open | Yes |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | No |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | No |
E.8.3 |
The trial involves single site in the Member State concerned
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.5 | The trial involves multiple Member States | No |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | Yes |
E.8.6.2 | Trial being conducted completely outside of the EEA | Information not present in EudraCT |
E.8.6.3 | If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned |
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E.8.7 | Trial has a data monitoring committee | No |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 3 |
E.8.9.1 | In the Member State concerned months | 0 |
E.8.9.1 | In the Member State concerned days | |
E.8.9.2 | In all countries concerned by the trial years | 3 |
E.8.9.2 | In all countries concerned by the trial months | 0 |